SD
MCID: SLL003
MIFTS: 38

Salla Disease (SD) malady

Metabolic diseases category

Summaries for Salla Disease

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards: Salla Disease, also known as sialic acid storage disease, finnish type, is related to free sialic acid storage disorders and intermediate severe salla disease. An important gene associated with Salla Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5), and among its related pathways are Tuberculosis and Phagosome. The compounds dmso and iron have been mentioned in the context of this disorder.

Wikipedia:63 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Description from OMIM:46 604369

Aliases & Classifications for Salla Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

salla disease 42 20 22 46 48
sialic acid storage disease, finnish type 60
sialuria, finnish type 42
sd 42


External Ids:

SNOMED-CT via Orphanet57 87074006
OMIM46 604369
ICD10 via Orphanet26 E77.8

Related Diseases for Salla Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1free sialic acid storage disorders10.5
2intermediate severe salla disease10.4
3lysosomal storage disease10.4
4retinitis10.3
5shwachman-diamond syndrome10.3
6brain disease10.3
7cerebellar disease10.2
8glaucoma10.1
9age related macular degeneration10.1
10diabetic macular edema10.1
11ocular hypertension10.1
12hypertension10.1
13sialuria10.0
14cystinosis10.0
15central nervous system disease10.0
16chromosomal disease10.0
17nervous system disease10.0
18peripheral nervous system disease10.0
19pulmonary emphysema10.0
20sialidosis type i10.0
21infantile free sialic acid storage disease10.0
22hydronephrosis10.0
23retinitis pigmentosa10.0
24hereditary spherocytosis10.0
25diabetic retinopathy10.0
26gallbladder cancer10.0
27gastroenteritis10.0
28keratoconus10.0
29macular retinal edema10.0
30melanoma10.0
31neuritis10.0
32neuromuscular disease10.0
33obesity10.0
34optic neuritis10.0
35proteinuria10.0
36sickle cell disease10.0
37hemoglobin sd10.0
38primary autosomal recessive microcephaly type 110.0
39microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
40chediak-higashi syndrome10.0LAMP1
41danon disease10.0LAMP2
42cholestasis10.0SLC17A5
43hermansky-pudlak syndrome10.0LAMP2
44hypertrophic cardiomyopathy10.0LAMP2
45tuberculosis10.0LAMP1
46lysosomal acid phosphatase deficiency10.0LAMP2, LAMP1
47syndromic diarrhea9.8
48moyamoya disease9.8
49plasmodium malariae malaria9.8
50hemoglobin d disease9.8

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Clinical Features for Salla Disease

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46OMIM
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Clinical features from OMIM:

604369

Clinical synopsis from OMIM:

604369

Drugs & Therapeutics for Salla Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Salla Disease

Search CenterWatch for Salla Disease

Genetic Tests for Salla Disease

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20GeneTests, 22GTR
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Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease20 22 SLC17A5

Anatomical Context for Salla Disease

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Animal Models for Salla Disease or affiliated genes

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Publications for Salla Disease

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Genetic Variations for Salla Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Salla Disease:

62
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Expression for genes affiliated with Salla Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

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Sources:
29KEGG, 37NCBI BioSystems Database
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Pathways related to Salla Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMP2, LAMP1
29.1LAMP2, LAMP1
39.1LAMP2, LAMP1
48.5LAMP2, LAMP1, SLC17A5

Compounds for genes affiliated with Salla Disease

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Salla Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmso449.4LAMP1, SLC17A5
2iron44 2410.3LAMP1, SLC17A5
3n-acetyllactosamine44 2410.3LAMP2, LAMP1
4mannose 6-phosphate44 2410.2LAMP2, LAMP1
5epinephrine44 11 2411.2LAMP1, SLC17A5
6sucrose44 11 2411.1LAMP1, LAMP2
7glycogen44 249.7LAMP2, SLC17A5

GO Terms for genes affiliated with Salla Disease

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16Gene Ontology
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Cellular components related to Salla Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1LAMP2, LAMP1
2late endosomeGO:0057708.8LAMP2, LAMP1
3lysosomal membraneGO:0057658.5LAMP2, LAMP1, SLC17A5
4membraneGO:0160208.4SLC17A5, LAMP1, LAMP2

Products for genes affiliated with Salla Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Salla Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet